Canonical Allele Identifier: CA400549478

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559904T>G (hg19) ; chr17:g.63482543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482543T>G , CM000679.2:g.63482543T>G	GRCh38
NC_000017.10:g.61559904T>G , CM000679.1:g.61559904T>G	GRCh37
NC_000017.9:g.58913636T>G	NCBI36
NG_011648.1:g.10471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1196T>G MANE Select	ENSP00000290866.4:p.Leu399Arg
ENST00000290866.9:c.1196T>G	ENSP00000290866.4:p.Leu399Arg
ENST00000428043.5:c.1196T>G	ENSP00000397593.2:p.Leu399Arg
ENST00000582678.5:c.*595T>G	ENSP00000462995.1:n.*595T>G
ENST00000584529.5:n.1230T>G
NM_000789.3:c.1196T>G	NP_000780.1:p.Leu399Arg
XM_005257110.1:c.647T>G	XP_005257167.1:p.Leu216Arg
NM_000789.4:c.1196T>G MANE Select	NP_000780.1:p.Leu399Arg
NM_001382700.1:c.629T>G	NP_001369629.1:p.Leu210Arg
NM_001382701.1:c.344T>G	NP_001369630.1:p.Leu115Arg